Biorepository: A facility that collects, catalogs, stores, manages, and distributes samples of biological material, such as urine, blood, tumor tissue, cells, DNA, RNA, and protein, from humans, animals, or plants for laboratory research.
Biospecimen: Samples of material, such as urine, blood, tissue, cells, DNA, RNA, and protein from humans, animals, or plants. Biospecimens are stored in a biorepository and are used for laboratory research.
The bill has a number of critical provisions that will ultimately help pediatric cancer, including brain tumor, patients. One such benefit is the legislation’s support of efforts that, “maximum research through discovery,” including, “childhood cancer biorepository and biospecimen research.”
“Biorepository” and “biospecimen” are technical, scientific terms. So, what do they mean in basic language? And why are they important to improving pediatric research? We explore below:
A biospecimen is a sample of biological material that can be used for scientific research. They can be from any living thing, but for the purposes of this context, the biospecimens in question are primarily samples of human biological material and information. The specific types of material may often include: tumor tissue from a biopsy or autopsy, including cells from the tumor; DNA and RNA extracted from a patient; and blood samples taken from a patient.
If the samples are from people, medical information may also be stored along with a written consent to use the samples in research.
These samples all need to be stored carefully and properly to ensure they remain viable for use in research. As such, many research institutions have built biorepositories to safely house samples they can later use in their scientific experiments.
The biorepository assures the quality as well as maintains and manages the accessibility and distribution of the biospecimens in its collection.
In Title I, section 101 of the STAR ACT, the bill provides that the Director of the National Institutes of Health may, “make awards…to build upon existing initiatives to collect biospecimens and clinical and demographic information…through one or more biospecimen research efforts designed to achieve a better understanding of the cause of such cancers (and their recurrences) and the effects of treatments for such cancers.”
It goes on to list the specific types of biospecimen and/or biorepository research efforts that would be eligible for an award (grant) under this bill. It includes any research that seeks to:
(A) Acquire, preserve, and store high-quality, donated biospecimens and associated clinical and demographic information on children, adolescents, and young adults diagnosed with cancer in the United States, focusing on children and adolescents enrolled in clinical trials for whom current treatments are least effective. Activities under this subparagraph may include storage of biospecimens and associated clinical and demographic data at biorepositories supported by the National Cancer Institute, such as the Children’s Oncology Group Biorepository and the Pediatric Cooperative Human Tissue Network as well as through biorepositories established as appropriate to support the scientific needs of future research efforts.
(B) Make such information publicly available, including the repositories described in (A).
(C) Maintain a secure searchable database on stored biospecimens and associated clinical and demographic data from children, adolescents, and young adults with cancer for the conduct of research by scientists and qualified healthcare professionals.
(D) Establish procedures for evaluating applications for access to such biospecimens and clinical and demographic data from researchers and other qualified healthcare professionals.
(E) Make available and distribute biospecimens and clinical and demographic data from children, adolescents, and young adults with cancer to researchers and qualified healthcare professionals for peer-reviewed research at a minimal cost.
Why is this all so important to research…particularly pediatric cancer and brain tumor research?
Biospecimens are the foundation of all research efforts. Researchers need to be able to study actual cancer and tumor cells from patients (again, taken through biopsy or autopsy) to learn what is going on that’s causing these cells to grow out-of-control. They need to analyze the DNA and RNA and other genetic and molecular information directly from patients to see what changes from normal or healthy DNA might be driving the disease. And in order for these materials to truly reflect what was going on inside the human patient (before they were removed from that environment), they need to be acquired, handled, and stored with the utmost care to keep them in “mint condition” for later use in research (which is where the biorepository comes in).
A major reason why this is a focus, particularly in the pediatric cancer space, is that the number of children diagnosed with pediatric cancers is relatively small (thankfully) compared to adult cancer diagnoses. For example, while we expect nearly 79,000 new brain tumor diagnoses in 2018, less than 5,000 of those are estimated to be in pediatric patients (kids 0-19). There are also a number of different types of pediatric brain tumors (AT/RT, DIPG, medulloblastoma, glioblastoma, ependymoma, to name just a few), each often having its own subtypes, as well. So, for example, when you break down the 5,000 new diagnoses across the vast network of medical institutions across the United States – and taking into account all the multiple types and subtypes of tumors – even the most frequented treatment and cancer centers may only see a dozen or so patients every year with a specific type of pediatric brain tumor. And not every patient consents (or is even eligible for various reasons) to donate tissue and other biospecimens for research. As such, many research institutions that are working on childhood cancer like pediatric brain tumors, don’t get enough samples to do the type of research needed to produce convincing scientific results that can drive future development of new treatments. That is to say, that lots of biospecimens are needed in research experiments to make sure the work scientists are doing is reliable, authentic, and dependable (i.e. the experiment’s results didn’t just happen by chance in just one set of cells), and if a research lab doesn’t have enough biospecimens they may not be able to do the type and volume of research needed to help develop a new treatment, even if they have a great hypothesis. Thus, biorepositories that can collect and store samples as they come in – and can then be shared with other researchers – are of critical importance, as is the continued focus on acquiring more biospecimens.
The bottom line is: in order to get to better treatments for kids with brain tumors and cancer, researchers need to be able to experiment on samples of cells, tissue, blood, DNA, etc. directly from patients with these diseases. And biospecimen and biorepositories are the primary way to facilitate this type of precision medicine research.